Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes

Crohn's disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping f...

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Veröffentlicht in:British journal of nutrition 2007-08, Vol.98 (2), p.345-350
Hauptverfasser: Bene, Judit, Komlósi, Katalin, Magyari, Lili, Talián, Gábor, Horváth, Krisztina, Gasztonyi, Beáta, Miheller, Pál, Figler, Mária, Mózsik, Gyula, Tulassay, Zsolt, Melegh, Béla
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container_title British journal of nutrition
container_volume 98
creator Bene, Judit
Komlósi, Katalin
Magyari, Lili
Talián, Gábor
Horváth, Krisztina
Gasztonyi, Beáta
Miheller, Pál
Figler, Mária
Mózsik, Gyula
Tulassay, Zsolt
Melegh, Béla
description Crohn's disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C → T, SLC22A5-207G → C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0·243 (sem 0·008) v. 0·283 (sem 0·014) μmol/l), butyryl- (0·274 (sem 0·009) v. 0·301 (sem 0·013)) and isovalerylcarnitine (0·147 (sem 0·006) v. 0·185 (sem 0·009)) levels were decreased; while the level of octenoyl- (0·086 (sem 0·006) v. 0·069 (sem 0·005)), myristoleyl- (0·048 (sem 0·003) v. 0·037 (sem 0·003)), palmitoyl- (0·140 (sem 0·005) v. 0·122 (sem 0·004)) and oleylcarnitine (0·172 (sem 0·006) v. 0·156 (sem 0·008); P 
doi_str_mv 10.1017/S0007114507705020
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The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C → T, SLC22A5-207G → C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0·243 (sem 0·008) v. 0·283 (sem 0·014) μmol/l), butyryl- (0·274 (sem 0·009) v. 0·301 (sem 0·013)) and isovalerylcarnitine (0·147 (sem 0·006) v. 0·185 (sem 0·009)) levels were decreased; while the level of octenoyl- (0·086 (sem 0·006) v. 0·069 (sem 0·005)), myristoleyl- (0·048 (sem 0·003) v. 0·037 (sem 0·003)), palmitoyl- (0·140 (sem 0·005) v. 0·122 (sem 0·004)) and oleylcarnitine (0·172 (sem 0·006) v. 0·156 (sem 0·008); P &lt; 0·05 in all comparisons) were increased. After sorting the patients into SLC22A genotype-specific subgroups, no significant differences could be observed between them. The carnitine ester profile data suggest selective involvement of the carnitine esters in CD patients, probably due to their altered metabolism.</description><identifier>ISSN: 0007-1145</identifier><identifier>EISSN: 1475-2662</identifier><identifier>DOI: 10.1017/S0007114507705020</identifier><identifier>PMID: 17391561</identifier><identifier>CODEN: BJNUAV</identifier><language>eng</language><publisher>Cambridge, UK: Cambridge University Press</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; biomarkers ; blood chemistry ; carnitine ; Carnitine - analogs &amp; derivatives ; Carnitine - blood ; Carnitine - genetics ; Carnitine ester profile ; Crohn disease ; Crohn Disease - blood ; Crohn Disease - genetics ; Crohn's disease ; Deoxyribonucleic acid ; Disease control ; disease resistance ; DNA ; epidemiology ; Esters ; Esters - blood ; etiology ; Feeding. Feeding behavior ; Female ; Fundamental and applied biological sciences. Psychology ; gene expression ; Gene Frequency - genetics ; Genes ; Genetic factors ; genetic polymorphism ; Genetic Predisposition to Disease - genetics ; genetic variance ; Genotype ; Genotype &amp; phenotype ; Genotypes ; Histology ; homeostasis ; human genetics ; Humans ; lipid metabolism ; Male ; Mass spectrometry ; Metabolic disorders ; Middle Aged ; molecular sequence data ; Mutation ; Nod2 Signaling Adaptor Protein - genetics ; NOD2/CARD15 ; nucleotide sequences ; OCTN1 ; OCTN2 ; Organic Cation Transport Proteins - genetics ; patients ; Plasma ; point mutation ; Proteins ; quantitative traits ; transporters ; Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><ispartof>British journal of nutrition, 2007-08, Vol.98 (2), p.345-350</ispartof><rights>Copyright © The Authors 2007</rights><rights>2007 INIST-CNRS</rights><rights>The Authors</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c505t-f714b724365b091ead7042ed082cbafc4abf8cbf0e3b78800c513ce7f3c498d3</citedby><cites>FETCH-LOGICAL-c505t-f714b724365b091ead7042ed082cbafc4abf8cbf0e3b78800c513ce7f3c498d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.cambridge.org/core/product/identifier/S0007114507705020/type/journal_article$$EHTML$$P50$$Gcambridge$$H</linktohtml><link.rule.ids>164,314,780,784,27924,27925,55628</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=18922911$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17391561$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bene, Judit</creatorcontrib><creatorcontrib>Komlósi, Katalin</creatorcontrib><creatorcontrib>Magyari, Lili</creatorcontrib><creatorcontrib>Talián, Gábor</creatorcontrib><creatorcontrib>Horváth, Krisztina</creatorcontrib><creatorcontrib>Gasztonyi, Beáta</creatorcontrib><creatorcontrib>Miheller, Pál</creatorcontrib><creatorcontrib>Figler, Mária</creatorcontrib><creatorcontrib>Mózsik, Gyula</creatorcontrib><creatorcontrib>Tulassay, Zsolt</creatorcontrib><creatorcontrib>Melegh, Béla</creatorcontrib><title>Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes</title><title>British journal of nutrition</title><addtitle>Br J Nutr</addtitle><description>Crohn's disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C → T, SLC22A5-207G → C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0·243 (sem 0·008) v. 0·283 (sem 0·014) μmol/l), butyryl- (0·274 (sem 0·009) v. 0·301 (sem 0·013)) and isovalerylcarnitine (0·147 (sem 0·006) v. 0·185 (sem 0·009)) levels were decreased; while the level of octenoyl- (0·086 (sem 0·006) v. 0·069 (sem 0·005)), myristoleyl- (0·048 (sem 0·003) v. 0·037 (sem 0·003)), palmitoyl- (0·140 (sem 0·005) v. 0·122 (sem 0·004)) and oleylcarnitine (0·172 (sem 0·006) v. 0·156 (sem 0·008); P &lt; 0·05 in all comparisons) were increased. After sorting the patients into SLC22A genotype-specific subgroups, no significant differences could be observed between them. The carnitine ester profile data suggest selective involvement of the carnitine esters in CD patients, probably due to their altered metabolism.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>biomarkers</subject><subject>blood chemistry</subject><subject>carnitine</subject><subject>Carnitine - analogs &amp; derivatives</subject><subject>Carnitine - blood</subject><subject>Carnitine - genetics</subject><subject>Carnitine ester profile</subject><subject>Crohn disease</subject><subject>Crohn Disease - blood</subject><subject>Crohn Disease - genetics</subject><subject>Crohn's disease</subject><subject>Deoxyribonucleic acid</subject><subject>Disease control</subject><subject>disease resistance</subject><subject>DNA</subject><subject>epidemiology</subject><subject>Esters</subject><subject>Esters - blood</subject><subject>etiology</subject><subject>Feeding. Feeding behavior</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>gene expression</subject><subject>Gene Frequency - genetics</subject><subject>Genes</subject><subject>Genetic factors</subject><subject>genetic polymorphism</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>genetic variance</subject><subject>Genotype</subject><subject>Genotype &amp; phenotype</subject><subject>Genotypes</subject><subject>Histology</subject><subject>homeostasis</subject><subject>human genetics</subject><subject>Humans</subject><subject>lipid metabolism</subject><subject>Male</subject><subject>Mass spectrometry</subject><subject>Metabolic disorders</subject><subject>Middle Aged</subject><subject>molecular sequence data</subject><subject>Mutation</subject><subject>Nod2 Signaling Adaptor Protein - genetics</subject><subject>NOD2/CARD15</subject><subject>nucleotide sequences</subject><subject>OCTN1</subject><subject>OCTN2</subject><subject>Organic Cation Transport Proteins - genetics</subject><subject>patients</subject><subject>Plasma</subject><subject>point mutation</subject><subject>Proteins</subject><subject>quantitative traits</subject><subject>transporters</subject><subject>Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><issn>0007-1145</issn><issn>1475-2662</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kkGP0zAQhS0EYsvCD-ACFhJwCoztOE6OS2ALohKglrM1ceyulzQpdipRfj0OjagE4mTZ75sZPz8T8pjBKwZMvV4DgGIsl6AUSOBwhyxYrmTGi4LfJYtJzib9gjyI8TZtSwbVfXLBlKiYLNiCHD93GHdIDYbej7631MbRBroPg_OdjdT3tA7DTf8y0tZHi9HSPY7e9mOk5gYDmoT7n7albgh0vao5v8ppzQrFNxT7dj6SdJlxUDXd2n4Yj3sbH5J7DrtoH83rJdlcv9vU77PVp-WH-mqVGQlyzJxieaN4LgrZQMUstgpyblsouWnQmRwbV5rGgRWNKksAI5kwVjlh8qpsxSV5cWqbHH0_JHN656OxXYe9HQ5Rq_SCnDOZwGd_gbfDIfTpapozUQrgVZkgdoJMGGIM1ul98DsMR81AT5nofzJJNU_mxodmZ9tzxRxCAp7PAEaDnQvYGx_PXFlxXrGJy06cTxH9-KNj-KYLJZTUxfKLLq9Xb9-I9Uc9DX564h0OGrch9fy65sBE-gcgit92xGwHd03w7daeTf_f0C-5Jbe7</recordid><startdate>20070801</startdate><enddate>20070801</enddate><creator>Bene, Judit</creator><creator>Komlósi, Katalin</creator><creator>Magyari, Lili</creator><creator>Talián, Gábor</creator><creator>Horváth, Krisztina</creator><creator>Gasztonyi, Beáta</creator><creator>Miheller, Pál</creator><creator>Figler, Mária</creator><creator>Mózsik, Gyula</creator><creator>Tulassay, Zsolt</creator><creator>Melegh, Béla</creator><general>Cambridge University Press</general><scope>FBQ</scope><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7T5</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20070801</creationdate><title>Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes</title><author>Bene, Judit ; Komlósi, Katalin ; Magyari, Lili ; Talián, Gábor ; Horváth, Krisztina ; Gasztonyi, Beáta ; Miheller, Pál ; Figler, Mária ; Mózsik, Gyula ; Tulassay, Zsolt ; Melegh, Béla</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c505t-f714b724365b091ead7042ed082cbafc4abf8cbf0e3b78800c513ce7f3c498d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>biomarkers</topic><topic>blood chemistry</topic><topic>carnitine</topic><topic>Carnitine - analogs &amp; derivatives</topic><topic>Carnitine - blood</topic><topic>Carnitine - genetics</topic><topic>Carnitine ester profile</topic><topic>Crohn disease</topic><topic>Crohn Disease - blood</topic><topic>Crohn Disease - genetics</topic><topic>Crohn's disease</topic><topic>Deoxyribonucleic acid</topic><topic>Disease control</topic><topic>disease resistance</topic><topic>DNA</topic><topic>epidemiology</topic><topic>Esters</topic><topic>Esters - blood</topic><topic>etiology</topic><topic>Feeding. 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The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C → T, SLC22A5-207G → C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0·243 (sem 0·008) v. 0·283 (sem 0·014) μmol/l), butyryl- (0·274 (sem 0·009) v. 0·301 (sem 0·013)) and isovalerylcarnitine (0·147 (sem 0·006) v. 0·185 (sem 0·009)) levels were decreased; while the level of octenoyl- (0·086 (sem 0·006) v. 0·069 (sem 0·005)), myristoleyl- (0·048 (sem 0·003) v. 0·037 (sem 0·003)), palmitoyl- (0·140 (sem 0·005) v. 0·122 (sem 0·004)) and oleylcarnitine (0·172 (sem 0·006) v. 0·156 (sem 0·008); P &lt; 0·05 in all comparisons) were increased. After sorting the patients into SLC22A genotype-specific subgroups, no significant differences could be observed between them. The carnitine ester profile data suggest selective involvement of the carnitine esters in CD patients, probably due to their altered metabolism.</abstract><cop>Cambridge, UK</cop><pub>Cambridge University Press</pub><pmid>17391561</pmid><doi>10.1017/S0007114507705020</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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source MEDLINE; EZB-FREE-00999 freely available EZB journals; Free Full-Text Journals in Chemistry; Cambridge University Press Journals Complete
subjects Adolescent
Adult
Aged
Aged, 80 and over
Biological and medical sciences
biomarkers
blood chemistry
carnitine
Carnitine - analogs & derivatives
Carnitine - blood
Carnitine - genetics
Carnitine ester profile
Crohn disease
Crohn Disease - blood
Crohn Disease - genetics
Crohn's disease
Deoxyribonucleic acid
Disease control
disease resistance
DNA
epidemiology
Esters
Esters - blood
etiology
Feeding. Feeding behavior
Female
Fundamental and applied biological sciences. Psychology
gene expression
Gene Frequency - genetics
Genes
Genetic factors
genetic polymorphism
Genetic Predisposition to Disease - genetics
genetic variance
Genotype
Genotype & phenotype
Genotypes
Histology
homeostasis
human genetics
Humans
lipid metabolism
Male
Mass spectrometry
Metabolic disorders
Middle Aged
molecular sequence data
Mutation
Nod2 Signaling Adaptor Protein - genetics
NOD2/CARD15
nucleotide sequences
OCTN1
OCTN2
Organic Cation Transport Proteins - genetics
patients
Plasma
point mutation
Proteins
quantitative traits
transporters
Vertebrates: anatomy and physiology, studies on body, several organs or systems
title Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes
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